|
|
| Nomenclature |
|
Symbol:
|
Col4a4m1Btlr
|
|
Name:
|
collagen, type IV, alpha 4;
mutation 1, Bruce Beutler
|
|
MGI ID: |
MGI:4838032 |
|
Synonyms: |
Aoba |
|
Gene:
|
Col4a4
Location:
Chr1:82452558-82586849 bp, - strand
Genetic Position: Chr1,
42.2 cM
|
|
Mutation
origin |
|
Strain of Origin:
|
C57BL/6J
|
|
Mutation
description |
|
Allele
Type: | |
Chemically induced (ENU) |
|
Mutation: | |
Single point mutation |
| |
|
Mutation details: The mutation has been identified as a G to A transition that impairs the donor splice site of intron 8. Reverse transcription of mRNA followed by PCR amplification revealed a deletion of 8 nucleotides in the transcript, resulting in a frame-shift that causes the addition after amino acid 176 of 13 aberrant amino acids followed by a premature termination codon. (J:158794)
|
|
Inheritance: | |
Recessive |
|
Phenotypes
|
View phenotypes for all genotypes (concatenated display).
|
|
Disease models
|
|
| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
|
| References |
|
Original: |
J:158794
Beutler B,
"Phenotypic mutations from the MUTAGENETIX<sup>TM</sup>ENU mutagenesis project"
MGI Direct Data Submission 2010;():
|
|
All: |
2 reference(s)
|
|
Analysis Tools
